RHO (rhodopsin)

2003-05-01  

Identity

HGNC
RHO
LOCATION
3q22.1
LOCUSID
6010
ALIAS
CSNBAD1,OPN2,RP4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6010
MIM: 180380
HGNC: 10012
Ensembl: ENSG00000163914

Variants:

dbSNP: 6010
ClinVar: 6010
TCGA: ENSG00000163914
COSMIC: RHO

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163914ENST00000296271P08100

Expression (GTEx)

0
1
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
PhototransductionKEGGko04744
PhototransductionKEGGhsa04744
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
VxPx cargo-targeting to ciliumREACTOMER-HSA-5620916
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
OpsinsREACTOMER-HSA-419771
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (i) signalling eventsREACTOMER-HSA-418594
Visual phototransductionREACTOMER-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902
The phototransduction cascadeREACTOMER-HSA-2514856
Activation of the phototransduction cascadeREACTOMER-HSA-2485179
Inactivation, recovery and regulation of the phototransduction cascadeREACTOMER-HSA-2514859

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
retina
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379524962024Osmotic stress studies of G-protein-coupled receptor rhodopsin activation.0
380700662024Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.0
382841722024Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.0
387436262024Dark continuous noise from mutant G90D-rhodopsin predominantly underlies congenital stationary night blindness.1
379524962024Osmotic stress studies of G-protein-coupled receptor rhodopsin activation.0
380700662024Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.0
382841722024Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.0
387436262024Dark continuous noise from mutant G90D-rhodopsin predominantly underlies congenital stationary night blindness.1
374702112023Retinal Organoid Models Show Heterozygous Rhodopsin Mutation Favors Endoplasmic Reticulum Stress-Induced Apoptosis in Rods.2
374702112023Retinal Organoid Models Show Heterozygous Rhodopsin Mutation Favors Endoplasmic Reticulum Stress-Induced Apoptosis in Rods.2
347983682022Conformational insights into the C-terminal mutations of human rhodopsin in retinitispigmentosa.0
354287102022Rho Kinase Expression in Giant Cell Arteritis: Validating Phosphorylated Ezrin/Radixin/Moesin Intensity Score to Increase Sensitivity of Temporal Artery Biopsy.0
347983682022Conformational insights into the C-terminal mutations of human rhodopsin in retinitispigmentosa.0
354287102022Rho Kinase Expression in Giant Cell Arteritis: Validating Phosphorylated Ezrin/Radixin/Moesin Intensity Score to Increase Sensitivity of Temporal Artery Biopsy.0
333478692021Spectrum-frequency and genotype-phenotype analysis of rhodopsin variants.9

Citation

Dessen P

RHO (rhodopsin)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42106/deep-insight-explorer/js/lib/css/template-card.css